Anthology of Human Repetitive DNA

Abstract

Human repetitive DNA includes tandemly arrayed and interspersed repeats. Tandemly arrayed microsatellites, minisatellites, telomeric repeats, and centromeric satellites constitute a significant portion of the genomic DNA, particularly of heterochromatin. Furthermore, around 45% of the genome is represented by so-called interspersed repeats that are mostly remnants of retrovirus-like LTR retrotransposons, non-LTR retrotransposons, and DNA transposons inserted in the genomic DNA over millions of years. Currently, the most active are L1 and Alu families of non-LTR retrotransposons, and they are known to cause genetic diseases through insertion into genes. Furthermore, repetitive sequences, particularly Alu elements, can stimulate illegitimate recombinations producing chromosomal instabilities leading to genetic disorders. Analysis of repetitive DNA is an important part of genome studies, and it is based on specialized databases and computer programs. Keywords: AP Endonuclease; Autonomous Transposable Element; Consensus Sequence; cDNA; DNA Transposon; Family of Repetitive Elements; Interspersed Repeats; Long Interspersed Repeat (LINE) Element; Long Terminal Repeats (LTRs); LTR Retrotransposons; Microsatellites; Minisatellites; Non-LTR Retrotransposons; Processed Pseudogene (Retropseudogene); Provirus; Pseudogene; Recombination; Repetitive Elements (Repeats); Ribonuclease H (RNase H); Retrotransposition (Retroposition); Retrotransposon (Retroposon); Retrovirus; Reverse Transcriptase; Satellite DNA; Short Interspersed Repeat (SINE) Element; Superfamily of TEs; Tandem Repeats; Target-primed Reverse Transcription (TPRT); Transposable Elements (TEs, Transposons, Mobile Elements); Transposase; Transposition